SYNLAB MVZ
Humangenetik Mannheim

O Brandau 2019 1

Al-Kindi A, Al-Shehhi M, Westenberger A, Beetz C, Scott P, Brandau O, Abbasi-Moheb L, Yüksel Z, Bauer P, Rolfs A, Grüning NM. A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients. J Hum Genet. 2020 Jan;65(2):193-197. doi: 10.1038/s10038-019-0693-2. Epub 2019 Nov 26. PMID: 31767933.

scroll to top